ZER1
gene geneOn this page
Also known as ZYGHzyg
Summary
ZER1 (zyg-11 related cell cycle regulator, HGNC:30960) is a protein-coding gene on chromosome 9q34.11, encoding Protein zer-1 homolog (Q7Z7L7). Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC.
This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs.
Source: NCBI Gene 10444 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 94 total
- Druggable target: yes
- MANE Select transcript:
NM_006336
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30960 |
| Approved symbol | ZER1 |
| Name | zyg-11 related cell cycle regulator |
| Location | 9q34.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZYG, Hzyg |
| Ensembl gene | ENSG00000160445 |
| Ensembl biotype | protein_coding |
| OMIM | 617764 |
| Entrez | 10444 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 33 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000291900, ENST00000414921, ENST00000427848, ENST00000494461, ENST00000873658, ENST00000873659, ENST00000929001, ENST00000929002, ENST00000929003, ENST00000929004, ENST00000929005, ENST00000929006, ENST00000929009, ENST00000929013, ENST00000929014, ENST00000960716, ENST00000960717, ENST00000960718, ENST00000960719, ENST00000960720, ENST00000960721, ENST00000960722, ENST00000960723, ENST00000960724, ENST00000960725, ENST00000960726, ENST00000960727, ENST00000960728, ENST00000960729, ENST00000960730, ENST00000960731, ENST00000960732, ENST00000960733, ENST00000960734
RefSeq mRNA: 7 — MANE Select: NM_006336
NM_001375954, NM_001375955, NM_001375956, NM_001375957, NM_001375958, NM_001375959, NM_006336
CCDS: CCDS6910
Canonical transcript exons
ENST00000291900 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001052402 | 128751413 | 128751527 |
| ENSE00001052403 | 128751122 | 128751268 |
| ENSE00001052404 | 128750616 | 128750789 |
| ENSE00001052405 | 128739931 | 128740119 |
| ENSE00001052406 | 128742530 | 128742745 |
| ENSE00001052408 | 128752673 | 128752849 |
| ENSE00001052410 | 128735334 | 128735431 |
| ENSE00001052412 | 128740772 | 128740887 |
| ENSE00001052414 | 128753164 | 128753600 |
| ENSE00001052416 | 128741535 | 128741654 |
| ENSE00001052418 | 128733426 | 128733528 |
| ENSE00001052419 | 128741800 | 128741841 |
| ENSE00001179277 | 128729786 | 128731394 |
| ENSE00001347654 | 128771581 | 128771927 |
| ENSE00001373790 | 128755408 | 128755659 |
| ENSE00003638075 | 128753809 | 128753959 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 95.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.0891 / max 385.9950, expressed in 1805 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102706 | 21.3117 | 1801 |
| 102705 | 3.1694 | 1468 |
| 102704 | 1.0296 | 595 |
| 102703 | 0.5784 | 327 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 95.21 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.63 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.75 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.56 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.52 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.43 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.38 | gold quality |
| amygdala | UBERON:0001876 | 93.33 | gold quality |
| muscle of leg | UBERON:0001383 | 93.16 | gold quality |
| apex of heart | UBERON:0002098 | 93.16 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.50 | gold quality |
| frontal cortex | UBERON:0001870 | 92.49 | gold quality |
| lower esophagus | UBERON:0013473 | 92.48 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.48 | gold quality |
| neocortex | UBERON:0001950 | 92.34 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.33 | gold quality |
| putamen | UBERON:0001874 | 92.30 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.21 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.15 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.95 | gold quality |
| hypothalamus | UBERON:0001898 | 91.93 | gold quality |
| telencephalon | UBERON:0001893 | 91.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.69 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.69 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.66 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.66 | gold quality |
| temporal lobe | UBERON:0001871 | 91.51 | gold quality |
| forebrain | UBERON:0001890 | 91.50 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.48 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.77 |
| E-GEOD-100618 | no | 362.50 |
| E-MTAB-9467 | no | 0.66 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
164 targeting ZER1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
Literature-anchored findings (GeneRIF, showing 1)
- Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1). (PMID:34214466)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zer1 | ENSDARG00000105123 |
| mus_musculus | Zer1 | ENSMUSG00000039686 |
| rattus_norvegicus | Zer1 | ENSRNOG00000025832 |
| drosophila_melanogaster | CG12084 | FBGN0043458 |
| caenorhabditis_elegans | WBGENE00020762 |
Paralogs (2): ZYG11B (ENSG00000162378), ZYG11A (ENSG00000203995)
Protein
Protein identifiers
Protein zer-1 homolog — Q7Z7L7 (reviewed: Q7Z7L7)
Alternative names: Hzyg, Zyg-11 homolog B-like protein, Zyg11b-like protein
All UniProt accessions (3): Q7Z7L7, X6RC68, X6RD87
UniProt curated annotations — full annotation on UniProt →
Function. Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts to target substrates bearing N-terminal degrons for proteasomal degradation with the first four residues of substrates being the key recognition elements. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation.
Subunit / interactions. Interacts with the ELOC-ELOB/Elongin BC complex. Part of an E3 ubiquitin ligase complex including ZER1, CUL2 and Elongin BC.
Tissue specificity. Expressed in testis, spermatocytes and spermatids (at protein level). Expressed in spermatocytes, spermatids, prostate, skeletal muscle, ovary, small intestine, heart, brain and pancreas.
Similarity. Belongs to the zyg-11 family.
RefSeq proteins (7): NP_001362883, NP_001362884, NP_001362885, NP_001362886, NP_001362887, NP_001362888, NP_006327* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000225 | Armadillo | Repeat |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR051341 | Zyg-11_UBL_adapter | Family |
| IPR055142 | ZER1-like_C | Domain |
| IPR056845 | LRR_Zer-1 | Domain |
Pfam: PF22964, PF25013
UniProt features (39 total): helix 16, repeat 8, sequence conflict 4, mutagenesis site 3, turn 3, initiator methionine 1, chain 1, modified residue 1, sequence variant 1, strand 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7XYT | X-RAY DIFFRACTION | 1.5 |
| 7EP3 | X-RAY DIFFRACTION | 1.51 |
| 7XYS | X-RAY DIFFRACTION | 1.7 |
| 7EP5 | X-RAY DIFFRACTION | 2.02 |
| 7EP4 | X-RAY DIFFRACTION | 2.07 |
| 7XYU | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z7L7-F1 | 90.92 | 0.77 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 9 | abolishes interaction with eloc. |
| 552 | complete loss of n-degron binding. |
| 597 | complete loss of n-degron binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 179 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TATTATA_MIR374, CACCAGC_MIR138, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_POSITIVE_REGULATION_OF_PROTEOLYSIS
GO Biological Process (2): protein quality control for misfolded or incompletely synthesized proteins (GO:0006515), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): Cul2-RING ubiquitin ligase complex (GO:0031462)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein catabolic process | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of proteasomal protein catabolic process | 1 |
| positive regulation of ubiquitin-dependent protein catabolic process | 1 |
| binding | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
906 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZER1 | CUL2 | Q13617 | 882 |
| ZER1 | ELOC | Q15369 | 613 |
| ZER1 | LRR1 | Q96L50 | 606 |
| ZER1 | ZYG11B | Q9C0D3 | 552 |
| ZER1 | ELOB | Q15370 | 529 |
| ZER1 | UBR4 | Q5T4S7 | 507 |
| ZER1 | RBX1 | P62877 | 499 |
| ZER1 | PPTC7 | Q8NI37 | 476 |
| ZER1 | SNX11 | Q9Y5W9 | 474 |
| ZER1 | CFAP45 | Q9UL16 | 444 |
| ZER1 | VHL | P40337 | 422 |
| ZER1 | TSPAN2 | O60636 | 420 |
| ZER1 | ZBTB44 | Q8NCP5 | 420 |
| ZER1 | FPGS | Q05932 | 418 |
| ZER1 | CUL5 | Q93034 | 411 |
IntAct
113 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLG2 | POLG | psi-mi:“MI:0914”(association) | 0.950 |
| DNM2 | DNM1 | psi-mi:“MI:0914”(association) | 0.740 |
| TEPSIN | AP4M1 | psi-mi:“MI:0914”(association) | 0.700 |
| CDCA5 | RAD21 | psi-mi:“MI:0914”(association) | 0.640 |
| AGRP | TK1 | psi-mi:“MI:0914”(association) | 0.640 |
| VEGFD | ADAM9 | psi-mi:“MI:0914”(association) | 0.640 |
| MGME1 | POLG | psi-mi:“MI:0914”(association) | 0.640 |
| TAFA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| GAST | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| LYG2 | COL4A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SPINK7 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| WFDC9 | CTSC | psi-mi:“MI:0914”(association) | 0.530 |
| AGA | HBB | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA2 | IFIT3 | psi-mi:“MI:0914”(association) | 0.530 |
| STMN2 | MTA2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLAIN1 | HSPA9 | psi-mi:“MI:0914”(association) | 0.530 |
| CLPSL1 | TNFAIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| TAFA1 | ZER1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| MPP2 | ABLIM1 | psi-mi:“MI:0914”(association) | 0.530 |
| LYG2 | TRAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| TSSC4 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.530 |
| PRRC2B | ZER1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| K6 | ZER1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (124): ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS)
ESM2 similar proteins: A0JM56, A0JPI9, A2BFL2, A5PK13, A6H639, J9SQF3, O13066, P19686, P33402, Q02108, Q0VAA2, Q14BP6, Q15111, Q15813, Q3USB7, Q498T9, Q4R642, Q4V8D9, Q4ZHS0, Q5DU41, Q5FVQ9, Q5RAG3, Q5RBD9, Q5RJH2, Q5ZIJ9, Q5ZIU8, Q62688, Q68F79, Q6DN12, Q6GQN5, Q6NU09, Q6P9F7, Q6WRX3, Q7Z7L7, Q80ZJ6, Q8BG40, Q8CDU4, Q8CIR4, Q8CIV8, Q8HXA6
Diamond homologs: A0JMZ3, A2BFL2, P21541, Q3UFS0, Q5RAG3, Q5TYQ1, Q6WRX3, Q7Z7L7, Q80ZJ6, Q9C0D3, Q2WF59, Q9W0E8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 154 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Late endosomal microautophagy | 5 | 16.5× | 4e-03 |
| Clathrin-mediated endocytosis | 8 | 6.9× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2740 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:128733420:TCTTA:T | donor_loss | 1.0000 |
| 9:128733421:CTTA:C | donor_loss | 1.0000 |
| 9:128733422:TTACC:T | donor_loss | 1.0000 |
| 9:128733423:TACC:T | donor_loss | 1.0000 |
| 9:128733424:A:AC | donor_gain | 1.0000 |
| 9:128733424:A:AG | donor_loss | 1.0000 |
| 9:128733425:C:CC | donor_gain | 1.0000 |
| 9:128733529:C:CC | acceptor_gain | 1.0000 |
| 9:128740000:T:TA | donor_gain | 1.0000 |
| 9:128740115:GGTTG:G | acceptor_gain | 1.0000 |
| 9:128740116:GTTG:G | acceptor_gain | 1.0000 |
| 9:128740117:TTG:T | acceptor_gain | 1.0000 |
| 9:128740117:TTGCT:T | acceptor_loss | 1.0000 |
| 9:128740118:TG:T | acceptor_gain | 1.0000 |
| 9:128740118:TGC:T | acceptor_loss | 1.0000 |
| 9:128740119:GCTG:G | acceptor_loss | 1.0000 |
| 9:128740120:C:CC | acceptor_gain | 1.0000 |
| 9:128740120:CT:C | acceptor_loss | 1.0000 |
| 9:128740121:T:A | acceptor_loss | 1.0000 |
| 9:128740124:C:CT | acceptor_gain | 1.0000 |
| 9:128740125:A:T | acceptor_gain | 1.0000 |
| 9:128740769:AAC:A | donor_loss | 1.0000 |
| 9:128740770:A:AC | donor_gain | 1.0000 |
| 9:128740771:C:CC | donor_gain | 1.0000 |
| 9:128740771:CC:C | donor_loss | 1.0000 |
| 9:128740883:AATTC:A | acceptor_gain | 1.0000 |
| 9:128740884:ATTC:A | acceptor_gain | 1.0000 |
| 9:128740885:TTC:T | acceptor_gain | 1.0000 |
| 9:128740886:TC:T | acceptor_gain | 1.0000 |
| 9:128740887:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
5091 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:128733520:A:G | Y717H | 1.000 |
| 9:128735348:A:G | L709P | 1.000 |
| 9:128735350:G:C | N708K | 1.000 |
| 9:128735350:G:T | N708K | 1.000 |
| 9:128735357:A:G | L706P | 1.000 |
| 9:128735360:G:T | A705D | 1.000 |
| 9:128735364:A:G | W704R | 1.000 |
| 9:128735364:A:T | W704R | 1.000 |
| 9:128735370:C:G | A702P | 1.000 |
| 9:128735371:C:A | W701C | 1.000 |
| 9:128735371:C:G | W701C | 1.000 |
| 9:128735372:C:G | W701S | 1.000 |
| 9:128735373:A:G | W701R | 1.000 |
| 9:128735373:A:T | W701R | 1.000 |
| 9:128735408:A:G | L689P | 1.000 |
| 9:128735417:A:T | I686N | 1.000 |
| 9:128735420:G:T | P685Q | 1.000 |
| 9:128735430:A:G | S682P | 1.000 |
| 9:128735431:C:A | R681S | 1.000 |
| 9:128735431:C:G | R681S | 1.000 |
| 9:128739931:C:A | R681M | 1.000 |
| 9:128739931:C:G | R681T | 1.000 |
| 9:128739932:T:C | R681G | 1.000 |
| 9:128739934:T:C | Y680C | 1.000 |
| 9:128739935:A:C | Y680D | 1.000 |
| 9:128739935:A:G | Y680H | 1.000 |
| 9:128739935:A:T | Y680N | 1.000 |
| 9:128739936:A:C | N679K | 1.000 |
| 9:128739936:A:T | N679K | 1.000 |
| 9:128739940:A:G | I678T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000050324 (9:128741201 CAG>C), RS1000082425 (9:128744346 C>G), RS1000089370 (9:128759794 CA>C,CAA), RS1000200221 (9:128766275 G>C), RS1000240439 (9:128729633 T>G), RS1000280449 (9:128757817 C>T), RS1000396086 (9:128757499 G>A,C,T), RS1000430111 (9:128766565 G>C), RS1000542959 (9:128744796 G>C), RS1000546060 (9:128759529 C>G), RS1000552324 (9:128749577 C>T), RS1000602970 (9:128749874 T>C), RS1000642845 (9:128772241 C>T), RS1000672064 (9:128750954 C>T), RS1000713220 (9:128748319 G>A)
Disease associations
OMIM: gene MIM:617764 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001959_7 | Eating disorders (purging via substances) | 5.000000e-06 |
| GCST002115_14 | Axial length | 6.000000e-06 |
| GCST005951_65 | Body mass index | 5.000000e-09 |
| GCST008077_28 | LDL cholesterol levels | 5.000000e-06 |
| GCST008077_82 | LDL cholesterol levels | 1.000000e-06 |
| GCST008078_137 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-08 |
| GCST008078_42 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 7.000000e-07 |
| GCST008079_123 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-10 |
| GCST008079_67 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-08 |
| GCST008086_5 | LDL cholesterol levels in current drinkers | 7.000000e-07 |
| GCST008086_82 | LDL cholesterol levels in current drinkers | 2.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005318 | axial length measurement |
| EFO:0004340 | body mass index |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL6066862 (PROTEIN-PROTEIN INTERACTION), CHEMBL6193837 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vitamin E | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
ChEMBL screening assays
12 unique, capped per target: 12 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5554710 | Binding | PROTAC (AATac) activity at ZYG11B/ZER1/EML4-ALK in human NCI-H3122 cells assessed as protein degradation upto 20 uM incubated for 72 hrs by immunoblot analysis | Distinct Amino Acid-Based PROTACs Target Oncogenic Kinases for Degradation in Non-Small Cell Lung Cancer (NSCLC). — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 telomerase immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C3LA | N/Tert-1 ZER1 | Telomerase immortalized cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): eating disorder